Clinical and molecular analysis of nine fetal cases with clinically significant variants causing nemaline myopathy-Reference-Cited by-同舟云学术

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Clinical and molecular analysis of nine fetal cases with clinically significant variants causing nemaline myopathy

Published:2024-01 Issue: Volume:292 Page:263-266
ISSN:0301-2115
Container-title:European Journal of Obstetrics & Gynecology and Reproductive Biology
language:en
Short-container-title:European Journal of Obstetrics & Gynecology and Reproductive Biology

Author:

Yu Qiu-Xia,Zhen Li,Lin Xiao-Mei,Wen Yun-Jing,Li Dong-Zhi

Publisher

Elsevier BV

Subject

Obstetrics and Gynecology,Reproductive Medicine

Reference22 articles.

1. Nemaline myopathies;Wallgren-Pettersson;Semin Pediatr Neurol,2011

2. Nemaline myopathy: a clinical study of 143 cases;Ryan;Ann Neurol,2001

3. Nemaline myopathies: a current view;Sewry;J Muscle Res Cell Motil,2019

4. Mutations in the NEB gene cause fetal akinesia/arthrogryposis multiplex congenita;Feingold-Zadok;Prenat Diagn,2017

5. Clinical and molecular analysis of four unrelated Chinese families with pathogenic KLHL40 variants causing nemaline myopathy 8;Yuan;Orphanet J Rare Dis,2022

Cited by 2 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Novel variant in ACTA1 identified in a fetus with akinesia deformation sequence and cortical development delay;Prenatal Diagnosis;2024-04-26

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